Johanna Kotilainen and Pia Pohjola contributed equally to this work.
Article first published online: 28 OCT 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 11, pages 2409–2414, November 2009
How to Cite
Kotilainen, J., Pohjola, P., Pirinen, S., Arte, S. and Nieminen, P. (2009), Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. Am. J. Med. Genet., 149A: 2409–2414. doi: 10.1002/ajmg.a.33062
How to cite this article: Kotilainen J, Pohjola P, Pirinen S, Arte S, Nieminen P. 2009. Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. Am J Med Genet Part A 149A:2409–2414.
- Issue published online: 28 OCT 2009
- Article first published online: 28 OCT 2009
- Manuscript Accepted: 22 JUL 2009
- Manuscript Received: 11 APR 2009
- HUCH Evo
- Turku University Central Hospital
- University of Turku Foundation
- Sotos syndrome;
- NSD1 gene;
- tooth agenesis;
The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars. © 2009 Wiley-Liss, Inc.